| Variant ID | 29476 |
|---|---|
| Entrez Gene ID | 2897 |
| Gene | GRIK1 (GeneCards) |
| Location | hg19 21:30959815-30959815
hg38 21:29587495-29587495 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000021.8:g.30959815 A>G (Genome Assembly: hg19) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8591 |
| CADD Raw score (version 1.3) | 5.994655 (Deleterious) |
| FATHMM raw prediction score | 0.98536 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.125 (Deleterious) |
| PROVEAN score | -4.63 (Deleterious) |
| MetaSVM score | -0.94 (Tolerated) |
| MetaLR score | 0.114 (Tolerated) |
| MCAP score | 0.048 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.85 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.318 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.55 |
| Deleterious probability by iFish2 | 0.9735 (Deleterious) |
| Deleterious probability by DeFine | 0.9178 (Deleterious) |
| Entrez Gene ID | 2897 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GRIK1 (GeneCards) |
| Number of variants in GRIK1 in this database | 7 (view all the variants) |
| Full name | glutamate ionotropic receptor kainate type subunit 1 |
| Band | 21q21.3 |
| Other IDs | Vega: OTTHUMG00000078879 OMIM: 138245 HGNC: HGNC:4579 Ensembl: ENSG00000171189 |
| Other names | EAA3, EEA3, GLR5, GLUR5, GlK1, glR-5 |
| Summary | Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.152 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |